The study demonstrated a diagnostic-yield for FPC (3%), PRSS1/SPINK1 (hereditary pancreatitis; 4%), CDKN2A (FM) (5%), BRCA1/2 and PALB2 (HBOC) (6.3%), and STK11/LKB1 (Peutz–Jeghers syndrome; PJS; 12.2%). The gene discussed is SPINK1; the disease is Peutz-Jeghers syndrome.